Canonical Allele Identifier: CA379804481

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612720-T-G
• MyVariant Identifiers: chr11:g.17634267T>G (hg19) ; chr11:g.17612720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612720T>G , CM000673.2:g.17612720T>G	GRCh38
NC_000011.9:g.17634267T>G , CM000673.1:g.17634267T>G	GRCh37
NC_000011.8:g.17590843T>G	NCBI36
NG_033191.1:g.70348T>G
NG_033191.2:g.70348T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6429T>G	ENSP00000382323.2:p.Asp2143Glu
ENST00000399397.6:c.6393T>G MANE Select	ENSP00000382329.2:p.Asp2131Glu
ENST00000342528.2:c.3447T>G	ENSP00000341666.2:p.Asp1149Glu
ENST00000399391.6:c.6429T>G	ENSP00000382323.2:p.Asp2143Glu
ENST00000399397.5:c.6393T>G	ENSP00000382329.2:p.Asp2131Glu
NM_001277269.1:c.6429T>G	NP_001264198.1:p.Asp2143Glu
NM_001292063.1:c.6393T>G	NP_001278992.1:p.Asp2131Glu
NM_001277269.2:c.6429T>G	NP_001264198.1:p.Asp2143Glu
NM_001292063.2:c.6393T>G MANE Select	NP_001278992.1:p.Asp2131Glu